A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268992



Internal ID22272650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246782321..246819642hg38UCSC Ensembl
Outerchr1:246945623..246982944hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3811109
hg1911109
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230075
Supporting Variants
SamplesNA19239
Known GenesLOC149134
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268992
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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